Brachydactyly

Brachydactyly, also known as brachydactyly, refers to a group of congenital hand and foot malformations characterized by short, absent, or fused phalanges and/or metacarpals/metatarsals, with complex and diverse clinical manifestations. It is essentially caused by developmental disorders or hypoplasia of the phalanges, metacarpals, or both. Brachydactyly is an autosomal dominant inherited disease that often clusters in specific families. It occurs in people of different ethnic groups, and due to the fact that most patients do not seek medical attention, it is difficult to determine its overall incidence in the population.